Incidental Mutation 'IGL02016:Elavl2'
| ID |
183737 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Elavl2
|
| Ensembl Gene |
ENSMUSG00000008489 |
| Gene Name |
ELAV like RNA binding protein 1 |
| Synonyms |
mel-N1, Hub |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.407)
|
| Stock # |
IGL02016
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
91139000-91289022 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91149172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 209
(E209G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008633]
[ENSMUST00000102799]
[ENSMUST00000107109]
[ENSMUST00000107110]
[ENSMUST00000107111]
[ENSMUST00000107116]
[ENSMUST00000107118]
[ENSMUST00000107120]
[ENSMUST00000107124]
[ENSMUST00000177109]
|
| AlphaFold |
Q60899 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000008633
AA Change: E180G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000008633
Gene: ENSMUSG00000008489
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
278 |
351 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102799
AA Change: E194G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099863
Gene: ENSMUSG00000008489
AA Change: E194G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
54 |
127 |
1.44e-24 |
SMART |
|
RRM
|
140 |
215 |
2.35e-20 |
SMART |
|
RRM
|
291 |
364 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107109
AA Change: E180G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102726
Gene: ENSMUSG00000008489
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107110
AA Change: E180G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102727
Gene: ENSMUSG00000008489
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
265 |
338 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107111
AA Change: E180G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102728
Gene: ENSMUSG00000008489
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
264 |
337 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107116
AA Change: E209G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102733
Gene: ENSMUSG00000008489
AA Change: E209G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
307 |
380 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107118
AA Change: E209G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000102735
Gene: ENSMUSG00000008489
AA Change: E209G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
294 |
367 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107120
AA Change: E209G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102737
Gene: ENSMUSG00000008489
AA Change: E209G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
69 |
142 |
1.44e-24 |
SMART |
|
RRM
|
155 |
230 |
2.35e-20 |
SMART |
|
RRM
|
306 |
379 |
5.15e-26 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107124
AA Change: E180G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102741
Gene: ENSMUSG00000008489
AA Change: E180G
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
RRM
|
126 |
201 |
2.35e-20 |
SMART |
|
RRM
|
277 |
350 |
5.15e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177109
|
| SMART Domains |
Protein: ENSMUSP00000135780
Gene: ENSMUSG00000008489
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
40 |
113 |
1.44e-24 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a neural-specific RNA-binding protein that is known to bind to several 3' UTRs, including its own and also that of FOS and ID. The encoded protein may recognize a GAAA motif in the RNA. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
C |
A |
2: 127,028,875 (GRCm39) |
G108V |
probably damaging |
Het |
| A2ml1 |
T |
C |
6: 128,535,298 (GRCm39) |
E804G |
probably damaging |
Het |
| Abcg4 |
G |
A |
9: 44,198,647 (GRCm39) |
T35M |
probably damaging |
Het |
| Acad9 |
A |
T |
3: 36,142,635 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,545,572 (GRCm39) |
D5571G |
probably damaging |
Het |
| App |
T |
A |
16: 84,853,409 (GRCm39) |
D223V |
unknown |
Het |
| Arhgap30 |
A |
G |
1: 171,235,315 (GRCm39) |
E563G |
probably damaging |
Het |
| Atp6v1e2 |
A |
T |
17: 87,251,822 (GRCm39) |
V192D |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,809,228 (GRCm39) |
V1969I |
probably benign |
Het |
| Bean1 |
T |
C |
8: 104,937,550 (GRCm39) |
L43S |
possibly damaging |
Het |
| Cand1 |
A |
G |
10: 119,048,473 (GRCm39) |
V436A |
probably damaging |
Het |
| Card6 |
T |
C |
15: 5,137,738 (GRCm39) |
I39V |
probably damaging |
Het |
| Ccdc73 |
A |
G |
2: 104,805,961 (GRCm39) |
T300A |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,907,466 (GRCm39) |
T962A |
possibly damaging |
Het |
| Chd6 |
G |
T |
2: 160,825,598 (GRCm39) |
L1169I |
probably damaging |
Het |
| Chrna7 |
A |
T |
7: 62,753,583 (GRCm39) |
V312E |
probably damaging |
Het |
| Dna2 |
A |
G |
10: 62,796,191 (GRCm39) |
N540S |
probably benign |
Het |
| Elmo2 |
A |
G |
2: 165,136,932 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,393,034 (GRCm39) |
R494* |
probably null |
Het |
| Garre1 |
A |
G |
7: 33,938,526 (GRCm39) |
M791T |
possibly damaging |
Het |
| Gm9966 |
A |
T |
7: 95,608,014 (GRCm39) |
T112S |
unknown |
Het |
| Gtf3c1 |
A |
C |
7: 125,267,211 (GRCm39) |
I940S |
probably damaging |
Het |
| Hecw2 |
C |
A |
1: 53,870,702 (GRCm39) |
Q1426H |
possibly damaging |
Het |
| Iars2 |
A |
C |
1: 185,035,503 (GRCm39) |
L579R |
probably damaging |
Het |
| Ifih1 |
A |
C |
2: 62,437,328 (GRCm39) |
M537R |
probably benign |
Het |
| Kcnmb4 |
A |
G |
10: 116,282,367 (GRCm39) |
|
probably benign |
Het |
| Large2 |
A |
G |
2: 92,199,888 (GRCm39) |
V175A |
possibly damaging |
Het |
| Mad2l1bp |
A |
G |
17: 46,464,428 (GRCm39) |
|
probably benign |
Het |
| Muc20 |
A |
T |
16: 32,617,722 (GRCm39) |
F14Y |
possibly damaging |
Het |
| Myom2 |
A |
G |
8: 15,175,195 (GRCm39) |
E1258G |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,841 (GRCm39) |
M258K |
probably damaging |
Het |
| Parp1 |
A |
T |
1: 180,426,516 (GRCm39) |
|
probably null |
Het |
| Pramel22 |
T |
A |
4: 143,381,889 (GRCm39) |
E269V |
possibly damaging |
Het |
| Prkra |
A |
T |
2: 76,473,653 (GRCm39) |
|
probably null |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Scd1 |
C |
T |
19: 44,388,746 (GRCm39) |
G235S |
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,020,184 (GRCm39) |
H654R |
possibly damaging |
Het |
| Sesn3 |
A |
G |
9: 14,231,633 (GRCm39) |
Y188C |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,585,666 (GRCm39) |
M461V |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,285,822 (GRCm39) |
I439V |
probably benign |
Het |
| Smc5 |
T |
A |
19: 23,251,076 (GRCm39) |
N36I |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,713,504 (GRCm39) |
F745S |
probably damaging |
Het |
| Spata22 |
A |
G |
11: 73,226,857 (GRCm39) |
N65S |
possibly damaging |
Het |
| Tanc1 |
A |
G |
2: 59,673,934 (GRCm39) |
T1680A |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,891,249 (GRCm39) |
V531M |
probably damaging |
Het |
| Trpm3 |
T |
G |
19: 22,879,433 (GRCm39) |
Y727* |
probably null |
Het |
| Tssk1 |
A |
T |
16: 17,712,758 (GRCm39) |
Y181F |
probably damaging |
Het |
| Ucp3 |
T |
A |
7: 100,129,766 (GRCm39) |
V136E |
probably damaging |
Het |
| Uqcrfs1 |
A |
C |
13: 30,729,097 (GRCm39) |
V45G |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,748,649 (GRCm39) |
I101T |
probably benign |
Het |
| Vmn1r206 |
A |
T |
13: 22,804,334 (GRCm39) |
L291Q |
probably damaging |
Het |
| Wnk2 |
T |
A |
13: 49,210,381 (GRCm39) |
I1813F |
probably damaging |
Het |
| Zbtb3 |
T |
A |
19: 8,780,579 (GRCm39) |
V64E |
probably damaging |
Het |
| Zeb2 |
A |
G |
2: 44,878,886 (GRCm39) |
I1115T |
possibly damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,945 (GRCm39) |
L275F |
possibly damaging |
Het |
|
| Other mutations in Elavl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01120:Elavl2
|
APN |
4 |
91,152,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Elavl2
|
APN |
4 |
91,152,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02024:Elavl2
|
APN |
4 |
91,141,776 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02860:Elavl2
|
APN |
4 |
91,149,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0458:Elavl2
|
UTSW |
4 |
91,197,104 (GRCm39) |
splice site |
probably benign |
|
|
R1294:Elavl2
|
UTSW |
4 |
91,199,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1778:Elavl2
|
UTSW |
4 |
91,141,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Elavl2
|
UTSW |
4 |
91,141,687 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2190:Elavl2
|
UTSW |
4 |
91,152,331 (GRCm39) |
missense |
probably benign |
0.22 |
|
R3773:Elavl2
|
UTSW |
4 |
91,152,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4473:Elavl2
|
UTSW |
4 |
91,149,246 (GRCm39) |
splice site |
probably null |
|
|
R4784:Elavl2
|
UTSW |
4 |
91,142,379 (GRCm39) |
missense |
probably null |
0.97 |
|
R4911:Elavl2
|
UTSW |
4 |
91,196,915 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5396:Elavl2
|
UTSW |
4 |
91,149,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6708:Elavl2
|
UTSW |
4 |
91,141,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6882:Elavl2
|
UTSW |
4 |
91,196,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7592:Elavl2
|
UTSW |
4 |
91,199,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7849:Elavl2
|
UTSW |
4 |
91,260,280 (GRCm39) |
unclassified |
probably benign |
|
|
R9051:Elavl2
|
UTSW |
4 |
91,199,847 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9381:Elavl2
|
UTSW |
4 |
91,197,009 (GRCm39) |
missense |
probably benign |
|
|
R9727:Elavl2
|
UTSW |
4 |
91,169,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-05-07 |
Incidental Mutation